Background Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis.
Objective To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease.
Methods We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate.
Results Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment.
Conclusion It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.